PAINEL DE IMUNODEFICIÊNCIAS PRIMÁRIAS COMPLETO

Este painel investiga genes associados às imunodeficiências primárias que são um grupo de alterações no sistema imunológico, de origem genética, que cursa com chance aumentada de desenvolvimento de infecções, distúrbios autoimunes e também neoplasias diversas. O diagnóstico genético é importante para fins de tratamento, estabelecimento de prognóstico e também para fins de aconselhamento genético. Neste painel são analisados, por sequenciamento de nova geração, 460 genes associados às imunodeficiências graves: A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADAM17, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, AP3B1, APOL1, ARMC4, ARPC1B, ATM, B2M, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C11orf70, C1QA, C1QB, C1QC, C1R, C1S, C2, C21orf59, C3, C4A, C4B, C4BPA, C4BPB, C5, C6, C7, C8A, C8B, C8G, C8orf37, C9, CARD11, CARD9, CASP10, CASP8, CCBE1, CDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDCA7, CDSN, CEBPE, CECR1, CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CFP, CHAMP1, CHD1, CHD7, CIITA, CLEC16A, CLEC7A,CLPB, COG6, COG7, COLEC11, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF2RA, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DEAF1, DHFR, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1L3, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DYX1C1, EDA, EFL1, EGFR, ELANE, ELF4, EPG5, ERCC2, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR1A, FCGR2C, FCGR3A, FCN3, FERMT3, FMO3, FOXN1, FOXP3,FPR1, G6PC, G6PC3, G6PD, GALNS, GAS8, GATA1, GATA2, GFI1, GSS, GTF2H5, HAX1, HELLS, HGSNAT, HTR1A, HYDIN, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKAP, IKBKB, IKBKG, IKZF1, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRAK4, IRF2BP2, IRF7, IRF8, ISG15, ITCH, ITGB2, ITK, IVD, JAGN1, JAK3, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG1, LIG4, LPIN2, LRBA, LRRC6, LRRC8A, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCM4, MEFV, MGP, MKL1, MLPH, MMAA, MMAB, MMACHC, MOGS, MPL, MPO, MRE11A, MS4A1, MSH6, MSN, MTHFD1, MUT, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NFASC, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF,NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NME8, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, OXCT1, PALB2, PARN, PCCA, PCCB, PEPD, PGM3, PIGA, PIH1D3, PIK3CD, PIK3R1, PLCG2, PMM2, PMS2, PNP, POLA1, POLE, POLE2, PPP1R21, PRF1, PRKCD, PRKDC, PSTPIP1, PTPRC, PTRF, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RASGRP1, RASGRP2, RBCK1, RBM8A, RECQL4, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RORC, RPL11, RPL15, RPL18, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SKIV2L, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC39A8, SLC46A1, SLK, SLX4, SMARCAL1, SMARCD2, SNAI2, SP110, SPAG1, SPATA5, SPINK5, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STN1, STX11, STXBP2, TALDO1, TAP1, TAP2, TAPBP, TAZ, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB3, THBD, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TPI1, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TRPS1, TSR2, TTC25, TTC37, TTC7A, TYK2, UBE2T, UMPS, UNC119, UNC13D, UNC93B1 ,UNG,USB1, VIPAS39, VPREB1, VPS13B, VPS33B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZMYND10.